CHRFAM7A

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External IDsGeneCards: [1]
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SpeciesHumanMouse
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CHRNA7-FAM7A fusion protein is a protein that in humans is encoded by the CHRFAM7A gene.[1][2]

The nicotinic acetylcholine receptors (nAChRs) are members of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. The family member CHRNA7, which is located on chromosome 15 in a region associated with several neuropsychiatric disorders, is partially duplicated and forms a hybrid with a novel gene from the family with sequence similarity 7 (FAM7A). Alternative splicing has been observed, and two variants exist, for this hybrid gene. The N-terminally truncated products predicted by the largest open reading frames for each variant would lack the majority of the neurotransmitter-gated ion-channel ligand binding domain but retain the transmembrane region that forms the ion channel. Although current evidence supports transcription of this hybrid gene, translation of the nicotinic acetylcholine receptor-like protein-encoding open reading frames has not been confirmed.[2] CHRFAM7A has not been found in nonhuman primates, and its occurrence in individuals of African descent is significantly lower than in Caucasian populations.[3]

References

  1. Riley B, Williamson M, Collier D, Wilkie H, Makoff A (Feb 2002). "A 3-Mb map of a large Segmental duplication overlapping the alpha7-nicotinic acetylcholine receptor gene (CHRNA7) at human 15q13-q14". Genomics. 79 (2): 197–209. doi:10.1006/geno.2002.6694. PMID 11829490.
  2. 2.0 2.1 "Entrez Gene: CHRFAM7A CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion".
  3. Szafranski, Przemyslaw; Schaaf, Christian P.; Person, Richard E.; Gibson, Ian B.; Xia, Zhilian; Mahadevan, Sangeetha; Wiszniewska, Joanna; Bacino, Carlos A.; Lalani, Seema (2010-07-01). "Structures and Molecular Mechanisms for Common 15q13.3 Microduplications Involving CHRNA7: Benign or Pathological?". Human Mutation. 31 (7): 840–850. doi:10.1002/humu.21284. ISSN 1059-7794. PMC 3162316. PMID 20506139.

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